Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

3 matching diseasesClear search ×

Aniridia-renal agenesis-psychomotor retardation syndrome

Sommer-Rathbun-Battles syndrome

ORPHA:1064

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

ORPHA:2724

Tetramelic monodactyly

Sommer-Hines syndrome

ORPHA:2564